SNP Links for Gene (Select 64137) - SNP

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Select item 14915699551.

rs1491569955 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 11:119147517 (GRCh38)
11:119018227 (GRCh37)
Canonical SPDI:: NC_000011.10:119147515:AGA:A
Gene:: ABCG4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.0054/64 (ALFA)
HGVS:: NC_000011.10:g.119147517_119147518del, NC_000011.9:g.119018227_119018228del, NG_047178.1:g.3478_3479del

Select item 14915604002.

rs1491560400 has merged into rs1431942537 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>-,GAGAGA [Show Flanks]
Chromosome:: 11:119147521 (GRCh38)
11:119018231 (GRCh37)
Canonical SPDI:: NC_000011.10:119147519:AGA:A,NC_000011.10:119147519:AGA:AGAGAGA
Gene:: ABCG4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: AGAGAGA=0./0 (ALFA)
HGVS:: NC_000011.10:g.119147521_119147522del, NC_000011.10:g.119147521GA[3], NC_000011.9:g.119018231_119018232del, NC_000011.9:g.119018231GA[3], NG_047178.1:g.3482_3483del, NG_047178.1:g.3482GA[3]

Select item 14913555313.

rs1491355531 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 11:119147509 (GRCh38)
11:119018219 (GRCh37)
Canonical SPDI:: NC_000011.10:119147507:AGA:A
Gene:: ABCG4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000011.10:g.119147509_119147510del, NC_000011.9:g.119018219_119018220del, NG_047178.1:g.3470_3471del

Select item 14913539674.

rs1491353967 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 11:119147516 (GRCh38)
11:119018227 (GRCh37)
Canonical SPDI:: NC_000011.10:119147516:G:GG
Gene:: ABCG4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: G=0.121622/72 (NorthernSweden)
G=0.153038/16470 (GnomAD)
G=0.170991/2635 (TOMMO)
G=0.212974/371 (Korea1K)
HGVS:: NC_000011.10:g.119147517dup, NC_000011.9:g.119018227dup, NG_047178.1:g.3478dup

Select item 14913132665.

rs1491313266 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GGAA [Show Flanks]
Chromosome:: 11:119147484 (GRCh38)
11:119018195 (GRCh37)
Canonical SPDI:: NC_000011.10:119147484:GAA:GAAGGAA
Gene:: ABCG4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: GAAG=0.00003/3 (GnomAD)
HGVS:: NC_000011.10:g.119147487_119147488insGGAA, NC_000011.9:g.119018197_119018198insGGAA, NG_047178.1:g.3448_3449insGGAA

Select item 14912647526.

rs1491264752 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 11:119163125 (GRCh38)
11:119033834 (GRCh37)
Canonical SPDI:: NC_000011.10:119163123:AGA:A
Gene:: ABCG4 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000253/3 (ALFA)
-=0.000156/1 (1000Genomes)
-=0.000358/50 (GnomAD)
HGVS:: NC_000011.10:g.119163125_119163126del, NC_000011.9:g.119033834_119033835del, NG_047178.1:g.19086_19087del

Select item 14911720027.

rs1491172002 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>-,GAGA [Show Flanks]
Chromosome:: 11:119147485 (GRCh38)
11:119018195 (GRCh37)
Canonical SPDI:: NC_000011.10:119147483:AGA:A,NC_000011.10:119147483:AGA:AGAGA
Gene:: ABCG4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: AGAGA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.119147485_119147486del, NC_000011.10:g.119147485_119147486dup, NC_000011.9:g.119018195_119018196del, NC_000011.9:g.119018195_119018196dup, NG_047178.1:g.3446_3447del, NG_047178.1:g.3446_3447dup

Select item 14911430488.

rs1491143048 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 11:119147520 (GRCh38)
11:119018231 (GRCh37)
Canonical SPDI:: NC_000011.10:119147520:G:GG
Gene:: ABCG4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.119147521dup, NC_000011.9:g.119018231dup, NG_047178.1:g.3482dup

Select item 14911319109.

rs1491131910 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 11:119147508 (GRCh38)
11:119018219 (GRCh37)
Canonical SPDI:: NC_000011.10:119147508:G:GG
Gene:: ABCG4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000755/77 (GnomAD)
HGVS:: NC_000011.10:g.119147509dup, NC_000011.9:g.119018219dup, NG_047178.1:g.3470dup

Select item 149112295810.

rs1491122958 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 11:119163124 (GRCh38)
11:119033834 (GRCh37)
Canonical SPDI:: NC_000011.10:119163124:G:GG
Gene:: ABCG4 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
HGVS:: NC_000011.10:g.119163125dup, NC_000011.9:g.119033834dup, NG_047178.1:g.19086dup

Select item 149106721011.

rs1491067210 has merged into rs142693589 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAGA>-,GA,GAGAGA,GAGAGAGA,GAGAGAGAGA,GAGAGAGAGAGA,GAGAGAGAGAGAGA [Show Flanks]
Chromosome:: 11:119147436 (GRCh38)
11:119018146 (GRCh37)
Canonical SPDI:: NC_000011.10:119147426:AGAGAGAGAGAGA:AGAGAGAGA,NC_000011.10:119147426:AGAGAGAGAGAGA:AGAGAGAGAGA,NC_000011.10:119147426:AGAGAGAGAGAGA:AGAGAGAGAGAGAGA,NC_000011.10:119147426:AGAGAGAGAGAGA:AGAGAGAGAGAGAGAGA,NC_000011.10:119147426:AGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGA,NC_000011.10:119147426:AGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGA,NC_000011.10:119147426:AGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGA
Gene:: ABCG4 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAGAGAGAGA=0./0 (ALFA)
AGAGAG=0.025/1 (GENOME_DK)
AGAGAG=0.06513/65 (GoNL)
AGAGAG=0.07525/45 (NorthernSweden)
HGVS:: NC_000011.10:g.119147428GA[4], NC_000011.10:g.119147428GA[5], NC_000011.10:g.119147428GA[7], NC_000011.10:g.119147428GA[8], NC_000011.10:g.119147428GA[9], NC_000011.10:g.119147428GA[10], NC_000011.10:g.119147428GA[11], NC_000011.9:g.119018138GA[4], NC_000011.9:g.119018138GA[5], NC_000011.9:g.119018138GA[7], NC_000011.9:g.119018138GA[8], NC_000011.9:g.119018138GA[9], NC_000011.9:g.119018138GA[10], NC_000011.9:g.119018138GA[11], NG_047178.1:g.3389GA[4], NG_047178.1:g.3389GA[5], NG_047178.1:g.3389GA[7], NG_047178.1:g.3389GA[8], NG_047178.1:g.3389GA[9], NG_047178.1:g.3389GA[10], NG_047178.1:g.3389GA[11]

Select item 149094053212.

rs1490940532 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 11:119148226 (GRCh38)
11:119018936 (GRCh37)
Canonical SPDI:: NC_000011.10:119148225:G:A,NC_000011.10:119148225:G:C
Gene:: ABCG4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000011.10:g.119148226G>A, NC_000011.10:g.119148226G>C, NC_000011.9:g.119018936G>A, NC_000011.9:g.119018936G>C, NG_047178.1:g.4187G>A, NG_047178.1:g.4187G>C

Select item 149083908213.

rs1490839082 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:119149674 (GRCh38)
11:119020384 (GRCh37)
Canonical SPDI:: NC_000011.10:119149673:C:T
Gene:: ABCG4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.119149674C>T, NC_000011.9:g.119020384C>T, NG_047178.1:g.5635C>T, NM_001142505.1:c.-27C>T

Select item 149002130614.

rs1490021306 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 11:119150895 (GRCh38)
11:119021606 (GRCh37)
Canonical SPDI:: NC_000011.10:119150895:CCCC:CCCCC
Gene:: ABCG4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCC=0.001404/26 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000157/22 (GnomAD)
C=0.005357/24 (Estonian)
HGVS:: NC_000011.10:g.119150899dup, NC_000011.9:g.119021609dup, NG_047178.1:g.6860dup

Select item 148989386615.

rs1489893866 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:119156964 (GRCh38)
11:119027674 (GRCh37)
Canonical SPDI:: NC_000011.10:119156963:A:G
Gene:: ABCG4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000011.10:g.119156964A>G, NC_000011.9:g.119027674A>G, NG_047178.1:g.12925A>G, NM_022169.5:c.1018A>G, NM_022169.4:c.1018A>G, NM_001348192.2:c.835A>G, NM_001348192.1:c.835A>G, NM_001348191.2:c.1018A>G, NM_001348191.1:c.1018A>G, NM_001142505.1:c.1018A>G, XM_011542952.3:c.826A>G, XM_011542952.2:c.826A>G, XM_011542952.1:c.826A>G, NP_071452.2:p.Ser340Gly, NP_001335121.1:p.Ser279Gly, NP_001335120.1:p.Ser340Gly, NP_001135977.1:p.Ser340Gly, XP_011541254.1:p.Ser276Gly

Select item 148986732316.

rs1489867323 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:119155665 (GRCh38)
11:119026375 (GRCh37)
Canonical SPDI:: NC_000011.10:119155664:G:C
Gene:: ABCG4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.119155665G>C, NC_000011.9:g.119026375G>C, NG_047178.1:g.11626G>C

Select item 148982815117.

rs1489828151 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:119147363 (GRCh38)
11:119018073 (GRCh37)
Canonical SPDI:: NC_000011.10:119147362:C:T
Gene:: ABCG4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.05775/685 (ALFA)
HGVS:: NC_000011.10:g.119147363C>T, NC_000011.9:g.119018073C>T, NG_047178.1:g.3324C>T

Select item 148980213018.

rs1489802130 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:119162870 (GRCh38)
11:119033579 (GRCh37)
Canonical SPDI:: NC_000011.10:119162869:G:A
Gene:: ABCG4 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000011.10:g.119162870G>A, NC_000011.9:g.119033579G>A, NG_047178.1:g.18831G>A

Select item 148973286319.

rs1489732863 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 11:119162230 (GRCh38)
11:119032939 (GRCh37)
Canonical SPDI:: NC_000011.10:119162229:A:G,NC_000011.10:119162229:A:T
Gene:: ABCG4 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000011.10:g.119162230A>G, NC_000011.10:g.119162230A>T, NC_000011.9:g.119032939A>G, NC_000011.9:g.119032939A>T, NG_047178.1:g.18191A>G, NG_047178.1:g.18191A>T, NM_022169.5:c.*1124A>G, NM_022169.5:c.*1124A>T, NM_022169.4:c.*1124A>G, NM_022169.4:c.*1124A>T, NM_001348192.2:c.*1124A>G, NM_001348192.2:c.*1124A>T, NM_001348192.1:c.*1124A>G, NM_001348192.1:c.*1124A>T, NM_001348191.2:c.*1124A>G, NM_001348191.2:c.*1124A>T, NM_001348191.1:c.*1124A>G, NM_001348191.1:c.*1124A>T, NM_001142505.1:c.*1124A>G, NM_001142505.1:c.*1124A>T, XM_011542952.3:c.*1124A>G, XM_011542952.3:c.*1124A>T, XM_011542952.2:c.*1124A>G, XM_011542952.2:c.*1124A>T, XM_011542952.1:c.*1124A>G, XM_011542952.1:c.*1124A>T

Select item 148957308620.

rs1489573086 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:119157815 (GRCh38)
11:119028525 (GRCh37)
Canonical SPDI:: NC_000011.10:119157814:G:A
Gene:: ABCG4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.119157815G>A, NC_000011.9:g.119028525G>A, NG_047178.1:g.13776G>A